Inborn metabolic disorders – An update (original) (raw)

Abstract

Inborn metabolic disorders (IMD) are a class of genetic diseases involving disorders of metabolism and are congenital. Majority of such disorders are due to defects of a single gene that code for enzymes that facilitate conversion of various substrates into products. IMDs are referred to as congenital metabolic diseases or inherited metabolic diseases. Recent innovations in medical technology have changed new-born screening programs. The early and specific diagnosis of inborn metabolic disorders and prompt initiation of appropriate therapy are still the best determinants of outcome for these patients. The topic of IMD is challenging for most physicians. The number of known metabolic disorders is probably as large as the number of presenting symptoms that may indicate metabolic disturbances. Advances in the diagnosis and treatment of IMDs have improved the outlook for many of these conditions so that early diagnosis, if possible in infancy, can be helpful. At present Laboratory testing for several metabolic disorders is done by new-born screening programs in all children in many hospitals to rule out IMD early. The content of this review articles will make awareness among the researchers on many clinical manifestations of IMD providing the basis for early diagnosis for initiating prompt treatment.

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References (74)

  1. Barbara K Burton. Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis MD PEDIATRICS, Vol. 102, No. 6, December 1, 1998, pp. e69.
  2. Sedel F. Inborn errors of metabolism in adult neurology, Rev Neurol (Paris), 2013 Feb; 169 Suppl 1: S63-9.
  3. Robin A Williams, Cyril DS Mamotte and John R Burnett. Phenylketonuria: An Inborn Error of Phenylalanine Metabolism, Clin Biochem Rev. Feb 2008; 29(1): 31-41.
  4. Huner G, Baykal T, Demir F, Demirkol M. Breastfeeding experience in inborn errors of metabolism other than phenylketonuria. J Inherit Metab Dis. 2005; 28(4):457-65.
  5. Camp KM, Lloyd-Puryear MA, Huntington KL. Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example. Mol Genet Metab. 2012 Sep; 107(1- 2):3-9.
  6. Stockler S, Moeslinger D, Herle M, Wimmer B, Ipsiroglu OS. Cultural aspects in the management of inborn errors of metabolism. J Inherit Metab Dis. 2012 Nov; 35(6):1147-52.
  7. Peñalva MA. A fungal perspective on human inborn errors of metabolism: alkaptonuria and beyond. Fungal Genet Biol. 2001 Oct; 34(1):1-10.
  8. Scriver CR. Garrod's Croonian Lectures and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008. J Inherit Metab Dis. 2008 Oct;31(5):580-98
  9. Onteddu Joji Reddy, Jamkhana Abdul Gafoor, Balla Suresh, Polysetty Obuleswar Prasad. Alkaptonuria with review of literature. Year: 2014: Vol 3; (2) 125-129.
  10. Moushumi Lodh and Joshi A. Kerketta. Early diagnosis of co-existent ß-thalassemia and alkaptonuria. Indian J Hum Genet. 2013 Apr- Jun; 19(2): 259-261.
  11. Shyam B Verma. Early detection of alkaptonuria. case report. Year: 2005, Vol 71(3): 189-191.
  12. Atkinson C, Miousse IR, Watkins D, Rosenblatt DS, Raiman JA. Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism. JIMD Rep. 2014; 17:77-81.
  13. Simon P, Weiss FU, Zimmer KP, Koch HG, Lerch MM. Acute and chronic pancreatitis in patients with inborn errors of metabolism. Pancreatology. 2001; 1(5):448-56.
  14. PA Kempster, D P Brenton, AN Gale and G M Stern. Dystonia in homocystinuria. J Neurol Neurosurg Psychiatry. Jun 1988; 51(6): 859- 862.
  15. Kabra M. Dietary management of inborn errors of metabolism. Indian J Pediatr. 2002 May; 69(5):421-6.
  16. Mitsubuchi H, Owada M, Endo F. Markers associated with inborn errors of metabolism of branched-chain amino acids and their relevance to upper levels of intake in healthy people: an
  17. Dhananjayan R. et al., Int. J. Bioassays, 2015, 4 (03), 3719-3728 www.ijbio.com 3726 implication from clinical and molecular investigations on maple syrup urine disease. J Nutr. 2005 Jun; 135(6 Suppl):1565S-70S.
  18. Zimmerman HA, Olson KC, Chen G, Lynch CJ. Adipose transplant for inborn errors of branched chain amino acid metabolism in mice. Mol Genet Metab. 2013 Aug; 109(4):345-53.
  19. Thompson GN, Walter JH, Leonard JV, Halliday D. In vivo enzyme activity in inborn errors of metabolism. Metabolism. 1990 Aug; 39(8): 799- 807.
  20. Thomas E. Dietary management of inborn errors of amino acid metabolism with protein- modified diets. J Child Neurol. 1992 Apr; 7 Suppl: S92-111.
  21. Schaefer F, Straube E, Oh J, Mehls O, Mayatepek E. Dialysis in neonates with inborn errors of metabolism. Nephrol Dial Transplant. 1999 Apr 14(4):910-8.
  22. Endo F, Matsuura T, Yanagita K, Matsuda I.Clinical manifestations of inborn errors of the urea cycle and related metabolic disorders during childhood. J Nutr. 2004 Jun;134(6 Suppl):1605S-1609S;
  23. Vaidyanathan K. Molecular diagnosis of urea cycle disorders: current global scenario. Indian J Biochem Biophys. 2013 Oct; 50(5):357-62.
  24. Scaglia F, Carter S, O'Brien WE, Lee B. Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. Mol Genet Metab. 2004 Apr; 81 Suppl 1: S79-85.
  25. Rita Christopher and Bindu P. Sankaran1An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist. Ann Indian Acad 2008 Apr-Jun; 11(2): 68-81.
  26. Wilcken B. Problems in the management of urea cycle disorders. Mol Genet Metab. 2004 Apr; 81 Suppl 1: S86-91.
  27. Uchino T, Endo F, Matsuda I. Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. J Inherit Metab Dis. 1998; 21 Suppl 1:151-9.
  28. Marcel Cerqueira Cesar Machado and Fabiano Pinheiro da Silva. Hyper ammonemia due to urea cycle disorders: a potentially fatal condition in the intensive care setting. Journal of Intensive Care 2014, 2:22
  29. Mistry PK, Taddei T, vom Dahl S, Rosenbloom BE. Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism. Crit Rev Oncog. 2013; 18(3):235-46.
  30. Packman W, Wilson Crosbie T, Riesner A, Fairley C, Packman S. Psychological complications of patients with Gaucher disease. J Inherit Metab Dis. 2006 Feb; 29(1):99-105.
  31. Pastores GM, Barnett NL, Bathan P, Kolodny EH. A neurological symptom survey of patients with type I Gaucher disease. J Inherit Metab Dis. 2003; 26(7):641-5.
  32. Haddley K. Taliglucerase alfa for the treatment of Gaucher's disease. Drugs Today (Barc). 2012 Aug;48(8):525-32
  33. Bender IB, Bender AL. Dental observations in Gaucher's disease: review of the literature and two case reports with 13-and 60-year follow- ups. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1996 Dec; 82(6):650-9.
  34. Charrow J.Enzyme replacement therapy for Gaucher disease. Expert Opin Biol Ther. 2009 Jan; 9(1):121-31.
  35. Giraldo P, Grupo de Trabajo de las Guías de Actuación. Guidelines for type 1 Gaucher's disease. Med Clin (Barc). 2011 Sep; 137 Suppl 1:55-60.
  36. Timothy M Cox. Gaucher disease: clinical profile and therapeutic developments. Biologics. 2010; 4: 299-313.
  37. Blitzer MG, McDowell GA. Tay-Sachs disease as a model for screening inborn errors. Clin Lab Med. 1992 Sep; 12(3):463-80.
  38. Jolly RD, Desnick RJ. Inborn errors of lysosomal catabolism--principles of heterozygote detection. Am J Med Genet. 1979; 4(3):293-307.
  39. Rinaldo P, Raymond K, al-Odaib A, Bennett MJ. Clinical and biochemical features of fatty acid oxidation disorders. Curr. Opin. Pediatr. 1998 Dec; 10(6):615-21.
  40. Kompare M, Rizzo WB. Mitochondrial fatty-acid oxidation disorders. Semin Pediatr Neurol. 2008 Sep; 15(3):140-9.
  41. Bennett MJ, Rinaldo P, Strauss AW. Inborn errors of mitochondrial fatty acid oxidation. Crit Rev Clin Lab Sci. 2000 Feb; 37(1):1-44.
  42. Rinaldo P. Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome. Dig Dis Sci. 1999 Aug, 44 (8Supplimentary):97S-102S.
  43. Vianey-Liaud C, Divry P, Gregersen N, Mathieu M. The inborn errors of mitochondrial fatty acid oxidation. J Inherit Metab Dis. 1987; 10 Suppl 1:159-200.
  44. Dhananjayan R. et al., Int. J. Bioassays, 2015, 4 (03), 3719-3728 www.ijbio.com 3727
  45. Waisbren SE, Landau Y, Wilson J, Vockley J. Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. Dev Disabil Res Rev. 2013 Jun; 17(3):260-8.
  46. Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum Mutat. 2001 Sep; 18(3):169-89.
  47. Sim KG1, Hammond J, Wilcken B. Strategies for the diagnosis of mitochondrial fatty acid beta- oxidation disorders. Clin Chim Acta. 2002 Sep; 323(1-2):37-58.
  48. Coman DJ1, Murray DW, Byrne JC, Rudd PM, Bagaglia PM, Doran PD, Treacy EP. Galactosemia, a single gene disorder with epigenetic consequences. Pediatr Res. 2010 Mar; 67(3):286-92.
  49. Petry K, Greinix HT, Nudelman E, Eisen H, Hakomori S, Levy HL, Reichardt JK. Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N- acetylgalactosamine and accumulation of precursors in brain and lymphocytes. Biochem Med Metab Biol. 1991 Aug; 46(1):93-104.
  50. Radomyska B. Pregnancy and inborn errors of metabolism. Ginekol Pol. 2003 Jun, 74(6):479- 85.
  51. Arindam Choudhury1, Sambhunath Das2, Usha Kiran3 Management of A Newborn with Galactosaemia for Congenital Heart Surgery. Indian Journal of Anaesthesia. 2009: Vol 53(2); Page: 219-222.
  52. Mayatepek E, Hoffmann B, Meissner T. Inborn errors of carbohydrate metabolism. Best Pract Res Clin Gastroenterol. 2010 Oct, 24 (5):607-18.
  53. Ayelet Erez, Oleg A. Shchelochkov, Sharon E. Plon, Fernando Scaglia, and Brendan Lee1, Insights into the Pathogenesis and Treatment of Cancer from Inborn Errors of Metabolism. Am J Hum Genet. Apr 8, 2011; 88(4): 402-421.
  54. Ogier de Baulny H. Management and emergency treatments of neonates with a suspicion of inborn errors of metabolism. Semin Neonatol. 2002 Feb, 7(1):17-26.
  55. Nicola Di Ferrante, Buford L. Nichols, Patricia V. Donnelly, Giovanni Neri, Ruzica Hrgovcic, and Robert K. Berglund. Induced Degradation of Glycosaminoglycans in Hurler's and Hunter's Syndromes by Plasma Infusion. Proc Natl Acad Sci U S A. Feb 1971; 68(2): 303-307.
  56. Vaca G, Hernández A, Ibarra B, Velázquez A, Olivares N, Sanchez-Corona J, Medina C, Cantú JM. Detection of inborn errors of metabolism in 1,117 patients studied because of suspected inherited disease. Arch Invest Med (Mex). 1981; 12(3):341-8.
  57. Stone DL, Sidransky E. Hydrops fetalis: lysosomal storage disorders in extremis. Adv Pediatr. 1999; 46:409-40.
  58. Frances M Platt. Sphingolipid lysosomal storage disorders. Nature 510, 8-75. (05 June 2014)
  59. Gregory M. Pastores. Review: Therapeutic approaches for lysosomal storage diseases Therapeutic Advances in Endocrinology and MetabolismOctober 2010 vol. 1 no. 4 177-188
  60. Todd DJ. Erythropoietic protoporphyria. Br J Dermatol. 1994 Dec; 131(6):751-66.
  61. Kondo M. Nihon Rinsho. Methods of determination of porphyrins and their precursors--introduction of analytical methods for porphyrin metabolites. 1995 Jun; 53(6):1357- 63.
  62. S Nia. Psychiatric signs and symptoms in treatable inborn errors of metabolism. J Neurol. 2014; 261 (Suppl 2): 559-568.
  63. Arfan U Bari. Congenital erythropoietic porphyria in three siblings Indian Journal of Dermatology, Venereology and Leprology, Vol. 73, No. 5, September-October, 2007, pp. 340- 342
  64. Zoran Gucev, Nevenka Slavevska, Velibor Tasic, Nevenka Laban, Nada Pop-Jordanova, Dragan Danilovski, Jacqueline Woolf, Duncan Cole. Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met) CASE REPORT. 2011; 17(2): 104-107.
  65. Chetty SP, Shaffer BL, Norton ME. Management of pregnancy in women with genetic disorders: Part 2: Inborn errors of metabolism, cystic fibrosis, neurofibromatosis type 1, and Turner syndrome in pregnancy. Obstet Gynecol Surv. 2011 Dec; 66(12):765-76.
  66. Lanpher B, Brunetti-Pierri N, Lee B. Inborn errors of metabolism: the flux from Mendelian to complex diseases. Nat Rev Genet. 2006 Jun; 7(6):449-60.
  67. Dhananjayan R. et al., Int. J. Bioassays, 2015, 4 (03), 3719-3728 www.ijbio.com 3728
  68. Nissenkorn A, Michelson M, Ben-Zeev B, Lerman-Sagie T. Inborn errors of metabolism: a cause of abnormal brain development. Neurology. 2001 May 22; 56(10):1265-72.
  69. Rowe PC, Valle D, Brusilow SW.Inborn errors of metabolism in children referred with Reye's syndrome. A changing pattern. JAMA. 1988 Dec 2, 260(21):3167-70.
  70. Schneider AR, Stichling F, Hoffmann M, Scheler R, Arnold JC, Riemann JF. Hepatosplenomegaly and progressive neurological symptoms -Late manifestation of Niemann-Pick disease type C - a case report.Z Gastroenterol. 2001 Nov; 39(11):971-4.
  71. Srikanth KN, Kulkarni A, Davies AM, Sumathi VP, Grimer RJ. Clear cell chondrosarcoma in association with niemann-pick disease. Sarcoma. 2005; 9(1-2):33-6.
  72. Sane SY. Urinary sediment in storage diseases: differential diagnosis of Nieman-Pick disease by cytologic means. Diagn Cytopathol. 1990; 6(2):122-3.
  73. Vincent I, Bu B, Erickson RP. Understanding Niemann-Pick type C disease: a fat problem. Curr Opin Neurol. 2003 Apr; 16(2):155-61.
  74. Nia S. Psychiatric signs and symptoms in treatable inborn errors of metabolism. J Neurol. 2014 Sep; 261 Suppl 2: S559-68. Cite this article as: Dhananjayan R., Rajeswari S. and Swaminathan S. Inborn metabolic disorders - An update, International Journal of Bioassays, 2015, 4 (03), 3719-3728. Source of support: Nil